Table 1 Clinical information on 211 published patients with HMGCL deficiency
From: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
Sex | female n = 78 male n = 101 not reported n = 32 |
Age at last clinical follow-up | median 48 months (n = 155, range: 72 h to 40 years) |
Parental consanguinity | 49% (60/122) |
Deceased patients | 16.1% (34/211) |
Median age at disease onset | 4 months (n = 146) |
Patients with at least 1 metabolic decompensation | 95.3% (163/171) |
Patients with normal psychomotor development | 62.6% (87/139) |
Patients with developmental delay or distinct neurologic abnormalities | 31.7% (44/139) |